The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A

Thalmann, Doreen Schwochow; Ring, Henrik; Sundström, Elisabeth; Cao, Xiaofang; Larsson, Mårten; Kerje, Susanne; Höglund, Andrey; Fogelholm, Jesper; Wright, Dominic; Jemth, Per; Hallböök, Finn; Bed’Hom, Bertrand; Dorshorst, Ben; Tixier‐Boichard, Michèle; Andersson, Leif

doi:10.1371/journal.pgen.1006665

Cited by 29 publications

(42 citation statements)

References 34 publications

(57 reference statements)

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“…So far, only a few genes regulating avian pigment pattern formation have been reported (6,30). Here, we report the role of gap junction involvement in regulating the size of the periodic pigment pattern in JQ.…”

Section: Ii) Melanocyte Transplantation Experiments In Vivo Showingmentioning

confidence: 82%

Instructive role of melanocytes during pigment pattern formation of the avian skin

Inaba

Jiang

Liang

et al. 2019

Proc. Natl. Acad. Sci. U.S.A.

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Animal skin pigment patterns are excellent models to study the mechanism of biological self-organization. Theoretical approaches developed mathematical models of pigment patterning and molecular genetics have brought progress; however, the responsible cellular mechanism is not fully understood. One long unsolved controversy is whether the patterning information is autonomously determined by melanocytes or nonautonomously determined from the environment. Here, we transplanted purified melanocytes and demonstrated that melanocytes could form periodic pigment patterns cell autonomously. Results of heterospecific transplantation among quail strains are consistent with this finding. Further, we observe that developing melanocytes directly connect with each other via filopodia to form a network in culture and in vivo. This melanocyte network is reminiscent of zebrafish pigment cell networks, where connexin is implicated in stripe formation via genetic studies. Indeed, we found connexin40 (cx40) present on developing melanocytes in birds. Stripe patterns can form in quail skin explant cultures. Several calcium channel modulators can enhance or suppress pigmentation globally, but a gap junction inhibitor can change stripe patterning. Most interestingly, in ovo, misexpression of dominant negative cx40 expands the black region, while overexpression of cx40 expands the yellow region. Subsequently, melanocytes instruct adjacent dermal cells to express agouti signaling protein (ASIP), the regulatory factor for pigment switching, which promotes pheomelanin production. Thus, we demonstrate Japanese quail melanocytes have an autonomous periodic patterning role during body pigment stripe formation. We also show dermal agouti stripes and how the coupling of melanocytes with dermal cells may confer stable and distinct pigment stripe patterns.Japanese quail | stripe pattern | melanocytes | ASIP | gap junction A nimal skin pigment patterns, such as periodic leopard spots and zebra stripes, represent some of the most amazing phenomena observed in nature, which have fascinated biologists and nonbiologists. The mechanisms of pigment patterning have been studied by mathematical and empirical approaches. Studies on zebrafish stripe patterning have led investigators to propose that the pattern is formed by pigment cell interactions that satisfy a Turing-type model (1,2). Mammalian genetic studies performed on horses, zebras, cheetahs, and chipmunks have identified some of the molecules involved in this process (3-5). Although theoretical models and the genetic backgrounds in the pigment patterning are well studied, how the pigment-related genes control the cell-cell interactions that generate the pigment pattern is largely unknown. Avian species present an excellent model system to answer these questions because of their extraordinarily diverse micropigment patterns within feathers (6) and embryonic manipulability that allows analyses of cell-cell interactions leading to macropigment patterning throughout the body. Japanese quail (JQ), a m...

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Section: Ii) Melanocyte Transplantation Experiments In Vivo Showingmentioning

confidence: 82%

Instructive role of melanocytes during pigment pattern formation of the avian skin

Inaba

Jiang

Liang

et al. 2019

Proc. Natl. Acad. Sci. U.S.A.

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“…The causal alleles are dominant and cause barring phenotypes in hemizygous females and heterozygous males. Homozygous males show very little pigmentation due to incomplete dosage compensation (Schwochow Thalmann et al 2017). Expression is thus strongest in homozygous males, although in this particular case the most attractive phenotype is produced by lower expression in heterozygous males and hemizygous females.…”

Section: Most Novel Ornaments Are Rarely Sexually Dimorphicmentioning

confidence: 96%

Genetic architecture of novel ornamental traits and the establishment of sexual dimorphism: insights from domestic birds

Kraaijeveld

2019

J Ornithol

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The evolution of sexually monomorphic ornamental traits is poorly understood and may require a shift in research focus away from strict sexual selection. To properly understand how selection affects such traits, we need to know to what extent they are constrained by their genetic architecture. Specifically, we need to understand how and in what state (monomorphic or dimorphic) ornamental traits first appear, how they are subsequently rendered sexually dimorphic, or not, and what mechanisms underlie their further elaboration and diversification. Here, I argue that recent developments in the genomic studies of domesticated birds provide insights into these questions. The causal mutations of several ornamental traits have been identified, particularly in chickens. I briefly review this literature and show that ornamental traits can be caused by a range of different types of mutations, including single-nucleotide polymorphisms and larger structural variations. Novel ornamental traits tend to be sexually monomorphic, suggesting that most cases of sexual dimorphism are the result of additional mutations, although we have no direct evidence for this in domestic birds. Several examples show how existing ornaments can be further elaborated and diversified by additional mutations. Ongoing research may also clarify what mutations cause the reversal to sexual monomorphism dull plumage in chickens. I conclude that current cases of sexually monomorphic ornamentation may consist of a mix of traits that are under selection for monomorphism and traits that are constrained to be monomorphic. Keywords Mutual ornamentation • Sexual monomorphism • Sexual selection • Genetic constraint • Chicken Zusammenfassung Die Evolution sexualmonorpher Ornamente ist bisher nur unzureichend verstanden. Es bedarf daher weiterer Erklärungsversuche, vor allem solcher, die nicht auf sexueller Selektion basieren. Um zu verstehen wie Selektion auf die Ausbildung sexualmonomorpher Ornamente wirkt, muss zunächst verstanden werden, in welchem Ausmaß sie durch ihre zu Grunde liegende genetische Architektur festgelegt sind. Insbesondere muss verstanden werden wie und in welchem Zustand (monomorph oder dimorph) Ornamente zunächst auftreten, ob und wie sie anschließend als sexualdimorph festgelegt werden und welche Mechanismen ihrer weitergehenden Ausschmückung und Diversifizierung zu Grunde liegen. Ich argumentiere an dieser Stelle, dass jüngste Entwicklungen im Bereich der Genomforschung domestizierter Vögel neue Einsichten in Bezug auf die genannten Fragestellungen eröffnen. Die der Ausbildung von Ornamenten zu Grunde liegenden Mutationen sind bereits bekannt, insbesondere in Hühnervögeln. Ich gebe hierzu eine kurze Literaturübersicht und zeige, dass die Ausbildung von Ornamenten durch verschiedene Typen von Mutationen verursacht werden kann, unter anderem durch Punktmutationen aber auch durch größere strukturelle Variationen. Neu auftretende Ornamente sind im Allgemeinen monomorph, was nahe legt, dass sexualdimorphe Ornamente ein Resultat zusätzlicher Muta...

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“…These mutations form four functionally different alleles -BN, B1, B2 and B0. The last allelic variant is characterized by extreme dilution of melanin (Schwochow Thalmann et al, 2017). These allele variants were formed from four SNPs located in the 12 kb region, including exon 1 CDKN2A.…”

Section: Secondary Color Of Plumagementioning

confidence: 99%

Molecular-genetic bases of plumage coloring in chicken

Макарова¹,

Митрофанова²,

Vakhrameev³

et al. 2019

Vestn. VOGiS

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The color of plumage in birds is an important feature, often determining descent to a particular species or breed. It serves as a key factor in the interaction of birds with each other due to their well-developed visual perception of the surrounding world. In poultry including chickens, the color of the plumage can be treated as a genetic marker, useful for identifying breeds, populations and breeding groups with their specific traits. The origin of diverse color plumage is the result of two interrelated physical processes, chemical and optical, due to which pigment and structural colors in the color are formed. The pigment melanin, which is presented in two forms, eumelanin and pheomelanin, is widely spread in birds. The basis for the formation of melanin is the aromatic amino acid tyrosine. The process of melano-genesis involves many loci, part of the complex expression of plumage color genes. In birds, the solid black color locus encodes the melanocortin 1 receptor (MC1R), mutations in which lead to a change in receptor activation and form different variants of the E locus. Using the GWAS analysis, possible genes affecting the formation of color in chickens were detected. The biosynthesis and types of melanin are affected by the activity of the enzyme tyrosine, and mutations in the tyrosinase gene (TYR) cause albinism in different species. The formation mechanism of brown, silver, gold, lavender and a number of other shades is determined by the influence on the work of the MC1R genes and TYR specific modifier genes. Thus, locus I currently associated with the PMEL17 gene inhibits the expression of eumelanin, and the MLPH gene affects tyrosinase function. Research on the mechanisms of formation of the secondary coloring of plumage in chickens is being actively conducted nowadays. The formation of a marble feather pattern is associated with the mutation of the endothelin B2 receptor (EDNRB2), in the coding part of the gene of which a polymorphism is found associated with the mo locus. The molecular base that causes the feather banding (locus B and autosomal recessive banding) is identified. Today, only some genes that determine the color of the plumage of chickens are studied and described. Different genes can produce similar plumage patterns, and different phenotypes can be determined by the polymorphism of a single gene. Using molecular methods, you can more accurately identify these differences. This overview shows the nature of melanin coloration in birds using the example of chickens of various breeds and also attempts to systematize knowledge about the molecular-genetic mechanisms of the appearance of various types of coloration.

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The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A

Cited by 29 publications

References 34 publications

Instructive role of melanocytes during pigment pattern formation of the avian skin

Instructive role of melanocytes during pigment pattern formation of the avian skin

Genetic architecture of novel ornamental traits and the establishment of sexual dimorphism: insights from domestic birds

Molecular-genetic bases of plumage coloring in chicken

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